{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T12:34:27Z","timestamp":1791462867959,"version":"4.3.4"},"reference-count":21,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.<\/jats:p>","DOI":"10.3390\/children8050377","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T02:14:05Z","timestamp":1620699245000},"page":"377","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report"],"prefix":"10.3390","volume":"8","author":[{"given":"Eun-Woo","family":"Park","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine, Keimyung University Dongsan Hospital, Keimyung University school of Medicine, Daegu 42601, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-3493","authenticated-orcid":false,"given":"Ye-Jee","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keimyung University Dongsan Hospital, Keimyung University school of Medicine, Daegu 42601, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung-Sook","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Keimyung University Dongsan Hospital, Keimyung University School of Medicine, Daegu 42601, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5174-286X","authenticated-orcid":false,"given":"Jin-Hong","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan 50612, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soyoung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Keimyung University Dongsan Hospital, Keimyung University school of Medicine, Daegu 42601, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7916-8428","authenticated-orcid":false,"given":"Jang-Hyuk","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Keimyung University Dongsan Hospital, Keimyung University school of Medicine, Daegu 42601, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/jpc.12868","article-title":"Duchenne muscular dystrophy","volume":"51","author":"Yiu","year":"2015","journal-title":"J. Paediatr. Child Health"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/S0140-6736(19)32910-1","article-title":"Muscular dystrophies","volume":"394","author":"Mercuri","year":"2019","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1007\/s10072-020-04307-7","article-title":"Is it the right time for an infant screening for Duchenne muscular dystrophy?","volume":"41","author":"Vita","year":"2020","journal-title":"Neurol. 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